Canonical Allele Identifier: CA2653132215

Gene: CD40

Linked Data

• gnomAD v4: 20-46122669-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122671del , CM000682.2:g.46122671del	GRCh38
NC_000020.10:g.44751310del , CM000682.1:g.44751310del	GRCh37
NC_000020.9:g.44184717del	NCBI36
NG_007279.1:g.9405del , LRG_40:g.9405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.414del	ENSP00000512095.1:n.414del
ENST00000489304.6:c.318del	ENSP00000512096.1:p.Glu107LysfsTer?
ENST00000695669.1:n.391del
ENST00000695670.1:n.298del
ENST00000695671.1:c.318del	ENSP00000512093.1:p.Glu107LysfsTer?
ENST00000695672.1:n.243del
ENST00000695673.1:n.183del
ENST00000372285.8:c.318del MANE Select	ENSP00000361359.3:p.Glu107LysfsTer?
ENST00000372276.7:c.318del	ENSP00000361350.3:p.Glu107LysfsTer?
ENST00000372285.7:c.318del	ENSP00000361359.3:p.Glu107LysfsTer?
ENST00000461171.1:n.103del
ENST00000466205.5:c.314del
ENST00000477696.5:n.385del
ENST00000489304.5:n.311del
ENST00000620709.4:c.318del	ENSP00000484074.1:p.Glu107LysfsTer?
NM_001250.5:c.318del	NP_001241.1:p.Glu107LysfsTer?
NM_001302753.1:c.318del	NP_001289682.1:p.Glu107LysfsTer?
NM_152854.3:c.318del	NP_690593.1:p.Glu107LysfsTer?
NR_126502.1:n.408del
XM_005260617.2:c.318del	XP_005260674.1:p.Glu107LysfsTer?
XM_005260619.2:c.318del	XP_005260676.1:p.Glu107LysfsTer?
XM_011529109.1:c.318del	XP_011527411.1:p.Glu107LysfsTer?
XR_936660.1:n.412del
NM_001322421.1:c.318del	NP_001309350.1:p.Glu107LysfsTer?
NM_001322422.1:c.318del	NP_001309351.1:p.Glu107LysfsTer?
NM_001362758.1:c.318del	NP_001349687.1:p.Glu107LysfsTer?
NR_136327.1:n.408del
XM_005260619.3:c.318del	XP_005260676.1:p.Glu107LysfsTer?
XM_011529109.2:c.318del	XP_011527411.1:p.Glu107LysfsTer?
XM_017028135.1:c.318del	XP_016883624.1:p.Glu107LysfsTer?
XM_017028136.1:c.318del	XP_016883625.1:p.Glu107LysfsTer?
NM_001250.6:c.318del MANE Select	NP_001241.1:p.Glu107LysfsTer?
NM_001302753.2:c.318del	NP_001289682.1:p.Glu107LysfsTer?
NM_001322421.2:c.318del	NP_001309350.1:p.Glu107LysfsTer?
NM_001322422.2:c.318del	NP_001309351.1:p.Glu107LysfsTer?
NM_001362758.2:c.318del	NP_001349687.1:p.Glu107LysfsTer?
NM_152854.4:c.318del	NP_690593.1:p.Glu107LysfsTer?
NR_126502.2:n.348del
NR_136327.2:n.348del